Tay- Sachs Disease
This is the most common of the group of ganglioside storage diseases. The group includes other diseases where normal and abnormal gangliosides are accumulated due to a deficiency or absence of galactosidases and hexosaminidases.
This condition is common among the Eastern European Jewish ancestry.
So what will we see in patient’s with Tay-Sachs Disease?
They will have apathy which will be noted towards the middle of the first year of life then this will be followed by motor function regression and visual impairment.
The infant is easily startled by noise (hyperacusis). Neurologic impairment includes:
– difficulty in sucking
– spasticity
– seizures
– opisthotonus
– a cherry red spot in the retina (eyes) is also another characteristic
Death usually occurs at 3 or 4 years of age.
The diagnosis of this disease is made through amniocentesis when the deficiency of the enzyme hexosaminidases A is seen.
Other Cerobrospinal fluid enzymes may be increased and on rectal biopsy, ballooned ganglion cells may be identified.
Only supportive measures are done for the treatment.